Canonical Allele Identifier: CA000630
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 127680
ClinVar RCV Id: RCV000115575
dbSNP Id: rs587779998
gnomAD v3: 10-87863562-T-G
gnomAD v4: 10-87863562-T-G
MyVariant Identifiers: chr10:g.89623319T>G (hg19) chr10:g.87863562T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863562T>G , CM000672.2:g.87863562T>G GRCh38
NC_000010.10:g.89623319T>G , CM000672.1:g.89623319T>G GRCh37
NC_000010.9:g.89613299T>G NCBI36
NG_007466.2:g.5125T>G , LRG_311:g.5125T>G
NG_033079.1:g.4876A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-892T>G (PTEN) ENSP00000516674.1:n.-16-892T>G
ENST00000688308.1:c.-17+449T>G (PTEN) ENSP00000508752.1:n.-17+449T>G
ENST00000692337.1:c.4T>G (MLDHR) ENSP00000509326.1:p.Trp2Gly
ENST00000693560.1:c.-388T>G (PTEN) ENSP00000509861.1:n.-388T>G
ENST00000371953.7:c.-908T>G (PTEN) ENSP00000361021.3:n.-908T>G
ENST00000610634.1:c.-1010T>G (PTEN) ENSP00000477517.1:n.-1010T>G
NM_000314.5:c.-907T>G (PTEN) NP_000305.3:n.-907T>G
NM_000314.6:c.-907T>G (PTEN) NP_000305.3:n.-907T>G
NM_001304717.2:c.-388T>G (PTEN) NP_001291646.2:n.-388T>G
NM_001304718.1:c.-1612T>G (PTEN) NP_001291647.1:n.-1612T>G
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